Incidental Mutation 'R6264:Sstr2'
| ID |
506900 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sstr2
|
| Ensembl Gene |
ENSMUSG00000047904 |
| Gene Name |
somatostatin receptor 2 |
| Synonyms |
Smstr-2, Smstr2, sst2, SSTR-2 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.697)
|
| Stock # |
R6264 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
113510168-113516854 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 113515932 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 284
(I284F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138101
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067591]
[ENSMUST00000106630]
[ENSMUST00000125890]
[ENSMUST00000136392]
[ENSMUST00000146031]
[ENSMUST00000146390]
|
| AlphaFold |
P30875 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000067591
AA Change: I284F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000068578
Gene: ENSMUSG00000047904
AA Change: I284F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srx
|
51 |
281 |
1.1e-10 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
54 |
327 |
1.9e-20 |
PFAM |
|
Pfam:7tm_1
|
60 |
312 |
2.5e-70 |
PFAM |
|
Pfam:7TM_GPCR_Srv
|
118 |
329 |
4.9e-13 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106630
AA Change: I284F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000102241
Gene: ENSMUSG00000047904
AA Change: I284F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srx
|
51 |
284 |
1.3e-10 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
54 |
327 |
1.9e-20 |
PFAM |
|
Pfam:7tm_1
|
60 |
312 |
1.4e-65 |
PFAM |
|
Pfam:7TM_GPCR_Srv
|
119 |
328 |
4.3e-13 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123153
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125890
|
| SMART Domains |
Protein: ENSMUSP00000115472
Gene: ENSMUSG00000041654
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Zip
|
7 |
200 |
3.6e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136392
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146031
|
| SMART Domains |
Protein: ENSMUSP00000121286
Gene: ENSMUSG00000041654
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
10 |
32 |
N/A |
INTRINSIC |
|
transmembrane domain
|
39 |
61 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000146390
AA Change: I284F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000138101
Gene: ENSMUSG00000047904
AA Change: I284F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srx
|
51 |
284 |
1.8e-10 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
54 |
327 |
2.4e-20 |
PFAM |
|
Pfam:7tm_1
|
60 |
312 |
3.1e-70 |
PFAM |
|
Pfam:7TM_GPCR_Srv
|
118 |
329 |
5.7e-13 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 96.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: The protein encoded by this gene is a receptor for somatostatin, which acts at many sites to inhibit the release of several hormones and other secretory proteins. The encoded protein is a member of the superfamily of receptors having seven transmembrane segments and is involved in many processes, including adenylyl cyclase inhibition, phosphotyrosine phosphatase stimulation, and inhibition of calcium entry and cell growth. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygotes for a null allele show elevated anxiety and locomotor and exploratory deficits. Homozygotes for a reporter allele show altered motor coordination, somatostatin-induced dopamine and glutamate release, retinal rod bipolar cells and EEG patterns, and reduced infarction after focal ischemia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc3 |
A |
G |
11: 94,264,824 (GRCm39) |
Y175H |
probably damaging |
Het |
| Agtpbp1 |
A |
T |
13: 59,598,114 (GRCm39) |
V1165D |
possibly damaging |
Het |
| Ahsg |
A |
G |
16: 22,717,611 (GRCm39) |
D224G |
probably benign |
Het |
| Akap11 |
T |
C |
14: 78,749,861 (GRCm39) |
D842G |
possibly damaging |
Het |
| Anln |
T |
C |
9: 22,245,413 (GRCm39) |
N186D |
possibly damaging |
Het |
| Aqr |
A |
G |
2: 113,940,445 (GRCm39) |
Y1234H |
probably damaging |
Het |
| Ccdc162 |
A |
G |
10: 41,570,464 (GRCm39) |
F7S |
probably benign |
Het |
| Cltc |
T |
C |
11: 86,596,084 (GRCm39) |
Y1222C |
probably damaging |
Het |
| Coro2a |
C |
T |
4: 46,562,912 (GRCm39) |
V81I |
probably damaging |
Het |
| Cpa5 |
T |
C |
6: 30,613,984 (GRCm39) |
V42A |
probably damaging |
Het |
| D2hgdh |
A |
G |
1: 93,754,177 (GRCm39) |
Y50C |
probably damaging |
Het |
| Ddx6 |
A |
G |
9: 44,540,049 (GRCm39) |
N326D |
probably damaging |
Het |
| Dedd2 |
A |
G |
7: 24,903,215 (GRCm39) |
L248P |
possibly damaging |
Het |
| Frem3 |
T |
A |
8: 81,341,832 (GRCm39) |
I1375N |
probably damaging |
Het |
| Gm12185 |
T |
C |
11: 48,807,002 (GRCm39) |
N63S |
probably benign |
Het |
| H2-Aa |
A |
G |
17: 34,502,172 (GRCm39) |
S250P |
probably damaging |
Het |
| Hbs1l |
T |
C |
10: 21,243,656 (GRCm39) |
S667P |
possibly damaging |
Het |
| Hc |
T |
A |
2: 34,896,285 (GRCm39) |
|
probably null |
Het |
| Hoxd4 |
A |
T |
2: 74,557,729 (GRCm39) |
Y36F |
possibly damaging |
Het |
| Ifi207 |
A |
G |
1: 173,555,111 (GRCm39) |
V864A |
probably damaging |
Het |
| Igsf10 |
T |
A |
3: 59,235,928 (GRCm39) |
T1418S |
possibly damaging |
Het |
| Klhl41 |
T |
C |
2: 69,510,176 (GRCm39) |
|
probably null |
Het |
| Lman2l |
T |
C |
1: 36,477,850 (GRCm39) |
N162S |
probably damaging |
Het |
| Lrr1 |
T |
G |
12: 69,215,655 (GRCm39) |
V9G |
probably damaging |
Het |
| Marchf5 |
T |
C |
19: 37,198,140 (GRCm39) |
I127T |
probably damaging |
Het |
| Med12l |
T |
C |
3: 59,163,423 (GRCm39) |
L1350P |
probably damaging |
Het |
| Mmp25 |
G |
A |
17: 23,849,768 (GRCm39) |
A541V |
possibly damaging |
Het |
| Myh10 |
T |
A |
11: 68,636,241 (GRCm39) |
I210N |
probably benign |
Het |
| Myo5c |
A |
G |
9: 75,182,836 (GRCm39) |
N825S |
probably benign |
Het |
| Nav3 |
T |
C |
10: 109,524,694 (GRCm39) |
T2312A |
probably damaging |
Het |
| Ndrg4 |
G |
T |
8: 96,436,396 (GRCm39) |
R208L |
probably damaging |
Het |
| Nell2 |
G |
A |
15: 95,244,706 (GRCm39) |
P464S |
probably damaging |
Het |
| Nrxn3 |
T |
A |
12: 90,299,011 (GRCm39) |
Y374N |
probably damaging |
Het |
| Oprd1 |
A |
C |
4: 131,841,365 (GRCm39) |
C198G |
possibly damaging |
Het |
| Pik3ca |
T |
C |
3: 32,494,863 (GRCm39) |
|
probably null |
Het |
| Plin4 |
T |
G |
17: 56,411,787 (GRCm39) |
D748A |
possibly damaging |
Het |
| Pramel23 |
T |
G |
4: 143,425,722 (GRCm39) |
T74P |
possibly damaging |
Het |
| Prkg2 |
T |
G |
5: 99,082,223 (GRCm39) |
K52Q |
probably benign |
Het |
| Ptprk |
A |
T |
10: 28,442,669 (GRCm39) |
E890D |
probably damaging |
Het |
| Rab27b |
T |
C |
18: 70,122,659 (GRCm39) |
D100G |
probably damaging |
Het |
| Ranbp6 |
T |
C |
19: 29,790,026 (GRCm39) |
T109A |
probably benign |
Het |
| Rarb |
T |
A |
14: 16,818,819 (GRCm38) |
M17L |
probably benign |
Het |
| Rasgrf2 |
T |
C |
13: 92,167,293 (GRCm39) |
H260R |
probably damaging |
Het |
| Rec8 |
T |
A |
14: 55,856,636 (GRCm39) |
D109E |
probably damaging |
Het |
| Scd4 |
C |
A |
19: 44,327,398 (GRCm39) |
S158* |
probably null |
Het |
| Scn7a |
T |
A |
2: 66,505,870 (GRCm39) |
E1673V |
possibly damaging |
Het |
| Sit1 |
A |
T |
4: 43,482,651 (GRCm39) |
D169E |
possibly damaging |
Het |
| Slc16a14 |
G |
T |
1: 84,885,130 (GRCm39) |
Q470K |
probably benign |
Het |
| Slc43a2 |
T |
A |
11: 75,457,900 (GRCm39) |
C392S |
possibly damaging |
Het |
| Smg1 |
A |
G |
7: 117,765,310 (GRCm39) |
|
probably benign |
Het |
| Tep1 |
C |
T |
14: 51,082,970 (GRCm39) |
V1013M |
probably damaging |
Het |
| Tmem120b |
T |
G |
5: 123,253,763 (GRCm39) |
L232R |
probably damaging |
Het |
| Tmem9b |
C |
A |
7: 109,344,612 (GRCm39) |
V75F |
probably damaging |
Het |
| Trappc3 |
A |
G |
4: 126,167,731 (GRCm39) |
S97G |
probably damaging |
Het |
| Ube3c |
T |
C |
5: 29,795,829 (GRCm39) |
F73L |
probably damaging |
Het |
| Vmn1r127 |
C |
A |
7: 21,052,930 (GRCm39) |
C286F |
probably benign |
Het |
| Vmn1r44 |
T |
C |
6: 89,870,652 (GRCm39) |
S133P |
probably benign |
Het |
| Vps8 |
C |
T |
16: 21,378,099 (GRCm39) |
Q635* |
probably null |
Het |
| Vwa8 |
A |
G |
14: 79,324,252 (GRCm39) |
E1185G |
possibly damaging |
Het |
| Zfp354c |
G |
A |
11: 50,706,274 (GRCm39) |
T267I |
probably benign |
Het |
|
| Other mutations in Sstr2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00906:Sstr2
|
APN |
11 |
113,515,821 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL01555:Sstr2
|
APN |
11 |
113,516,445 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL02173:Sstr2
|
APN |
11 |
113,515,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02430:Sstr2
|
APN |
11 |
113,515,630 (GRCm39) |
missense |
probably damaging |
0.99 |
|
chat
|
UTSW |
11 |
113,515,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0125:Sstr2
|
UTSW |
11 |
113,515,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0565:Sstr2
|
UTSW |
11 |
113,516,445 (GRCm39) |
missense |
probably benign |
0.32 |
|
R1227:Sstr2
|
UTSW |
11 |
113,515,711 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1356:Sstr2
|
UTSW |
11 |
113,515,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1992:Sstr2
|
UTSW |
11 |
113,515,495 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2504:Sstr2
|
UTSW |
11 |
113,515,257 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2509:Sstr2
|
UTSW |
11 |
113,515,749 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2510:Sstr2
|
UTSW |
11 |
113,515,749 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2511:Sstr2
|
UTSW |
11 |
113,515,749 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4051:Sstr2
|
UTSW |
11 |
113,515,482 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4083:Sstr2
|
UTSW |
11 |
113,516,071 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4207:Sstr2
|
UTSW |
11 |
113,515,482 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4208:Sstr2
|
UTSW |
11 |
113,515,482 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5666:Sstr2
|
UTSW |
11 |
113,515,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6339:Sstr2
|
UTSW |
11 |
113,515,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6443:Sstr2
|
UTSW |
11 |
113,516,080 (GRCm39) |
splice site |
probably null |
|
|
R6968:Sstr2
|
UTSW |
11 |
113,515,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7146:Sstr2
|
UTSW |
11 |
113,516,179 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7735:Sstr2
|
UTSW |
11 |
113,515,423 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R8057:Sstr2
|
UTSW |
11 |
113,515,099 (GRCm39) |
missense |
probably benign |
|
|
R8086:Sstr2
|
UTSW |
11 |
113,515,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8087:Sstr2
|
UTSW |
11 |
113,515,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9076:Sstr2
|
UTSW |
11 |
113,515,177 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9194:Sstr2
|
UTSW |
11 |
113,515,203 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9572:Sstr2
|
UTSW |
11 |
113,516,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TATCTACGCCTTCATCCTGGGG -3'
(R):5'- CCGGGATTTGTCCTGCTTAC -3'
Sequencing Primer
(F):5'- CCTGGGGTTCCTGGTACC -3'
(R):5'- GGATTTGTCCTGCTTACTGTCGC -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation